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The long-form version of my CV is available here.

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Last updated on 2023-09-09.

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Regina H Reynolds

Key publications

Local genetic correlations exist among neurodegenerative and neuropsychiatric diseases

NPJ Parkinson’s disease

N/A

2023

  • Reynolds, RH, Wagen, AZ, Lona-Durazo, F, Scholz, SW, Shoai, M, Hardy, J, Gagliano Taliun, SA, Ryten, M
  • Role: Co-first author, lead analyst and corresponding author.
  • Analysis of local genetic correlations between neurodegenerative and neuropsychiatric disorders, with the aim of identifying genomic regions and genes that may drive pleiotropy.

Cross-platform transcriptional profiling identifies common and distinct molecular pathologies in Lewy body disorders

Acta Neuropathologica

N/A

2021

  • Feleke, R, Reynolds, RH, Smith, A, Tilley, B, Gagliano Taliun, SA, Hardy, J, Matthews, PM, Gentleman, S, Owen , D, Johnson, MR, Srivastava, P, Ryten, M
  • Role: Co-first author and analyst.
  • Transcriptomic analysis of cell-type-specific changes in the Lewy body diseases.

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

Brain

N/A

2020

  • Mencacci, NE, Reynolds, RH, Garcia Ruiz, S, Vandrovcova, J, Forabosco, P, Sánchez-Ferrer, A, Volpato, V, UK Brain Expression Consortium, International Parkinson’s Disease Genomics Consortium, Weale, ME, Bhatia, KP, Webber, C, Hardy, J, Botía, JA, Ryten, M
  • Role: Co-first author and analyst.
  • Integrative omics analysis of monogenic dystonias, with the aim of improving our understanding of the pathways driving this clinically heterogeneous group of movement disorders.

Informing disease modelling with brain-relevant functional genomic annotations

Brain

N/A

2019

  • Reynolds, RH, Hardy, J, Ryten, M, Gagliano Taliun, SA
  • Role: First author.
  • Review of conceptual advances in the generation of brain-relevant functional genomic annotations and among tools that allow integration of these annotations with genome-wide association summary statistics.

Moving beyond neurons: the Role of cell type-specific gene regulation in Parkinson’s disease heritability

NPJ Parkinson’s disease

N/A

2019

  • Reynolds, RH, Botía, JA, Nalls, MA, International Parkinson’s Disease Genomic Consortium (IPDGC), System Genomics of Parkinson’s Disease (SGPD), Hardy, J, Gagliano Taliun, SA, Ryten, M
  • Role: First author and lead analyst.
  • Analysis of Parkinson’s disease common variation, with the aim of identifying cell types and pathways of importance to disease risk.

Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington’s disease model

Molecular and Cellular Neuroscience

N/A

2018

  • Reynolds, RH, Petersen, MH, Willert, CW, Heinrich, M, Nymann, N, Dall, M, Treebak, JT, Björkqvist, M, Silahtaroglu, A, Hasholt, L and Nørremølle, A
  • Role: First author, lead experimentalist and analyst.

Publications

aws-s3-integrity-check: an open-source bash tool to verify the integrity of a dataset stored on Amazon S3

GigaByte

N/A

2023

  • Garcia-Ruiz, S, Reynolds, RH et al.
  • Role: Adviser. Contributed to idea development and critiqued manuscript.

Genome-wide Analysis of Motor Progression in Parkinson Disease

Neurology Genetics

N/A

2023

  • Martinez-Carrasco, A, Real, R, Lawton, M, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Regional genetic correlations highlight relationships between neurodegenerative disease loci and the immune system

Communications Biology

N/A

2023

  • Lona-Durazo, F, Reynolds, RH et al.
  • Role: Analyst and advisor. Contributed to code base and critiqued manuscript.

Association between the LRP1B and APOE loci and the development of Parkinson’s disease dementia

Brain

N/A

2023

  • Real, R, Martinez-Carrasco, A, Reynolds, RH et al.
  • Role: Adviser. Critiqued manuscript.

The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases

Neurobiology of Disease

N/A

2023

  • Chen, Z, Reynolds RH et al.
  • Role: Author and analyst. Performed partitioned SNP-heritability analyses and contributed to writing of results.

The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

NPJ Parkinson’s disease

N/A

2023

  • Leonard, HL, Reynolds, RH et al. on behalf of The International Parkinson Disease Genomics Consortium (IPDGC) and The Global Parkinson’s Genetics Program (GP2)
  • Role: Author and analyst. Contributed to creation of tools.

ensemblQueryR: fast, flexible and high-throughput querying of Ensembl LD API endpoints in R

arXiv

N/A

2023

  • Fairbrother-Browne, A, Garcia-Ruiz, S, Reynolds, RH et al.
  • Role: Adviser. Contributed to conceptrualisation and critiqued manuscript.

IntroVerse: a comprehensive database of introns across human tissues

Nucleic Acid Research

N/A

2022

  • García-Ruíz, S, Gustavsson, EK, Zhang, D, Reynolds, RH et al.
  • Role: Adviser. Critiqued manuscript.

Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

Nature Communications

N/A

2022

  • Krohn, L, Heilbron, K, Blauwendraat, C, Reynolds, RH, et al.
  • Role: Analyst. Performed colocalisation analyses and gene expression analyses.

ggtranscript: an R package for the visualization and interpretation of transcript isoforms using ggplot2

Bioinformatics

N/A

2022

  • Gustavsson, EK, Zhang, D, Reynolds, RH, Ruiz, SG, Ryten, MR
  • Role: Adviser. Performed beta testing and critiqued manuscript.

Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease

Communications Biology

N/A

2021

  • Fairbrother-Browne, A, Ali, A, Reynolds, RH et al.
  • Role: Adviser. Advised on tools available for cell-type specificity and heritability analyses.

A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

Neuropathology and Applied Neurobiology

N/A

2021

  • Altmann, A, Ryten, M, Di Nunzio, M, Ravizza, T, Tolomeo, D, Reynolds, RH et al.
  • Role: Analyst. Collated gene lists designed to capture microglial states.

An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of a-synuclein

Cell Reports

N/A

2021

  • Kara, E, Crimi, A, Wiedmer, A, Emmenegger, M, Manzoni, C, Bandres-Ciga, S, D’Sa, K, Reynolds, RH et al.
  • Role: Analyst. Performed expression-weighted cell-type enrichment analyses.

Heritability enrichment implicates microglia in Parkinson’s disease pathogenesis

Annals of Neurology

N/A

2021

  • Andersen, MS, Bandres-Ciga, S, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Human-lineage-specific genomic elements: relevance to neurodegenerative disease and APOE transcript usage

Nature Communications

N/A

2021

  • Chen, Z, Zhang, D, Reynolds, RH et al.
  • Role: Analyst. Performed partitioned SNP-heritability analyses.

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

JAMA Neurology

N/A

2021

  • Kia, DA, Zhang, D, Guelfi, S, Manzoni, C, Hubbard, L, Reynolds, RH et al.
  • Role: Analyst. Involved in cell-type annotation of prioritised genes.

Modelling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights

Bioinformatics

N/A

2021

  • Sánchez, JA, Gil-Martínez, AL, Cisterna, A, García-Ruíz, S, Gómez-Pascual, A, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture

Nature Genetics

N/A

2021

  • Chia, R, Sabir, MS, Bandres-Ciga, S, Saez-Atienzar, S, Reynolds, RH et al.
  • Role: Analyst. Performed colocalisation analyses and gene expression analyses.

CoExp Web, a web tool for the exploitation of co-expression networks

Frontiers in Genetics

N/A

2021

  • García-Ruíz, S, Gil-Martínez, AL, Cisterna, A, Jurado, F, Reynolds, RH et al.
  • Role: Analyst. Involved in cell-type annotation of gene co-expression networks.

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Lancet Neurology

N/A

2021

  • Jabbari, E, Koga, S, Valentino, R, Reynolds, RH et al.
  • Role: Analyst. Performed colocalisation analyses.

Genome-wide association studies of cognitive and motor progression in Parkinson’s disease

Movement Disorders

N/A

2021

  • Tan, MMX, Lawton, MA, Jabbari, E, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

Science Advances

N/A

2021

  • Saez-Atienzar, S, Bandres-Ciga, S, Langston, RG, Kim, JJ, Choi, SW, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Differences in network controllability and regional gene expression underlie hallucinations in Parkinson’s disease

Brain

N/A

2020

  • Zarkali, A, McColgan, P, Ryten, M, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Dementia risk in Parkinson’s disease is associated with interhemispheric connectivity loss and determined by regional gene expression

NeuroImage: Clinical

N/A

2020

  • Zarkali, A, McColgan, P, Ryten, M, Reynolds, RH et al.
  • Role: Adviser. Reviewed and critiqued statistical analyses and manuscript.

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Brain Communications

N/A

2020

  • Altmann, A, Cash, DM, Bocchetta, M, Heller, C, Reynolds, RH et al.
  • Role: Analyst. Performed expression-weighted cell-type enrichment analyses.

Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disorders

Science Advances

N/A

2020

  • Zhang, D, Guelfi, S, Ruiz, SG, Costa, B, Reynolds, RH et al.
  • Role: Analyst. Performed expression-weighted cell-type enrichment analyses.

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

Nature Communications

N/A

2020

  • Guelfi, S*, D’Sa, K*, Botía, JA*, Vandrovcova, J, Reynolds, RH et al.
  • Role: Experimentalist and analyst. Performed PCR validation of transcription and partitioned SNP-heritability analyses.

Genetic variability in response to amyloid beta deposition influences Alzheimer’s risk

Brain Communications

N/A

2019

  • Salih, DA, Bayram, S, Guelfi, S, Reynolds, RH et al.
  • Role: Analyst. Performed colocalisation analyses.

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

NPJ Parkinson’s disease

N/A

2019

  • Billingsley, KJ, Barbosa, IA, Bandrés-Ciga S, Quinn, JP, Bubb, VJ, Deshpande, C, Botía, JA, Reynolds, RH et al.
  • Role: Analyst. Performed expression-weighted cell-type enrichment analyses.

Variation at the TRIM11 locus modifies Progressive Supranuclear Palsy phenotype

Annals of Neurology

N/A

2018

  • Jabbari, E, John, W, Tan, MMX, Maryam, S, Pittman, A, Ferrari, R, Mok, KY, Zhang, D, Reynolds, RH et al.
  • Role: Analyst. Performed gene-based association testing and analysis of gene expression data.

Pre-prints

Pseudogenes limit the identification of novel common transcripts generated by their parent genes

bioRxiv

N/A

2022

  • Gustavsson, EK, Sethi, S, Gao, Y, Brenton, J, Ruiz, SG, Zhang, D, Reynolds, RH et al.
  • Role: Adviser. Critiqued manuscript.

Detection of pathogenic splicing events from RNA-sequencing data using dasper

bioRxiv

N/A

2021

  • Zhang, D, Reynolds, RH, et al.
  • Role: Adviser. Helped guide and troubleshoot feature selection for outlier detection of splicing events.

ERASE: Extended Randomization for assessment of annotation enrichment in ASE datasets

bioRxiv

N/A

2019

  • D’Sa, K, Reynolds RH et al.
  • Role: Analyst. Performed partitioned SNP-heritability analyses.

G2P: Using machine learning to understand and predict genes causing rare neurological disorders

bioRxiv

N/A

2018

  • Botía, JA, Guelfi, S, Zhang, D, D’Sa, K, Reynolds, RH et al.
  • Role: Adviser. Helped interpret the output of machine-learning-based models to distinguish disease genes from non-disease genes.